OasisLMS

ACMG Education Webinar Series: Translating Genes into Health®

Date of Release: July 1, 2025

Expiration Date: June 30, 2027

Credits offered: AMA PRA Category 1 Credits™

Estimate time of completion: 1.0 hour

Title: It’s all about the vitamins [B]aby!

Sponsored by The Education and Professional Development Committee

Description

This session explores the essential functions of vitamins—particularly B vitamins—as metabolic cofactors and their significance in maintaining health. Through a series of case-based examples, we will examine how vitamin deficiencies can mimic inherited metabolic disorders (IMDs), and how supratherapeutic dosing of select B vitamins can be employed as targeted therapies.

We will begin with an overview of the biochemical roles of vitamins, with an emphasis on their cofactor activity, followed by detailed case studies:

• Thiamine (B1): Beyond the well-known thiamine-responsive maple syrup urine disease (MSUD), we will explore lesser-known disorders such as thiamine pyrophosphokinase deficiency, highlighting clinical presentations and treatment implications.
• Riboflavin (B2): Case examples will demonstrate how riboflavin deficiency, especially in neonates on long-term parenteral nutrition, can result in metabolic profiles suggestive of complex IMDs, emphasizing the need for awareness of multivitamin shortages in clinical care.
• Pyridoxine (B6): We will review the clinical course and therapeutic response of pyridoxine-dependent epilepsy, discussing the importance of early recognition, treatment, and emerging considerations for newborn screening.
• Biotin (B7): Biotinidase deficiency serves as a successful example of early detection and intervention via newborn screening, with discussion on long-term management and areas for ongoing research.

Target Audience: Medical and clinical geneticists; maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.

Learning Objectives

At the conclusion of this session, participants should be able to:

• Distinguish between the different B vitamins and their roles in cellular metabolism.
• Identify dietary sources and recommended intake of various B vitamins according to established nutritional guidelines.
• Recognize clinical manifestations associated with disorders of B vitamin metabolism.
• Implement diagnostic approaches and treatment management strategies for disorders of B vitamin metabolism.
• Apply proactive intervention by supplementing B vitamins before obtaining results from genetic testing.

Debra Regier, MD, PhD, FACMG Rare Disease Institute

Presenters:

	Kristina Cusmano-Ozog, MD, FACMG Stanford University School of Medicine
	Jennifer Harmon, MD, PhD Wake Forest University School of Medicine
	Curtis Coughlin, PhD, MS, MBE University of Colorado Anschutz Medical Campus
	Anna Scott, PhD, FACMG University of Washington
	Matthew Rasberry RD, CNSC University of Wisconsin Madison

CME AMA PRA Category 1 Credits^TM

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation

The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The American Medical Association (AMA) defines physicians as those individuals who have obtained an MD, DO, or equivalent medical degree from another country. Non-physicians may request a certificate of attendance for their participation.

Claiming your Educational Credits

This activity consists of: View content, take a post-test, the test may be taken as often as necessary to achieve a passing score of 80% or better is required to receive credit.  If you do not achieve a passing score, the program will identify which questions you answered incorrectly so that you can review the module and try again. Complete the evaluation form.

Learner Data Consent

ACMG Education reports learner data to respective agency boards and you will be asked for consent during the evaluation process. Your compliance with deadlines and completing evaluations are part of the process in meeting learner needs and ACMG’s education mission.

Technical Support:
You can reach us by email at education@acmg.net or call 301-718-9603.
Support Center Hours: Monday – Friday, 9:00 AM – 5:00 PM Eastern Time.

Accredited Continuing Education Financial Disclosure

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.

ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.

ACMG Education Policies

Please review the policies below regarding the ACMG Education program

• Financial Disclosures and Mitigation Procedure
• ACMG Content Validation Policy
• ACMG Content Branding Policy

All of the relevant financial relationships listed for these individuals have been mitigated.

Disclaimer

ACMG educational programs are designed primarily as an educational tool for health care providers who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and or exclusive of other procedures and that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

Questions regarding CE credit should be directed to education@acmg.net